Global Burden of Genetic Birth Defects Cited

Action Points

Support efforts to provide education and training to clinicians in developed or developing countries on preventing and treating birth defects.

JOHANNESBURG, South Africa, Jan. 31 - Six percent of all babies born worldwide every year, or nearly eight million children, have genetic birth defects, according to a report from the March of Dimes Foundation.

And each year more than three million of these children will die, said Arnold Christianson, M.D., of the National Health Laboratory Service in Johannesburg, South Africa, and colleagues, in the March of Dimes Global Report on Birth Defects.

Worldwide, the rate of genetic birth defects ranged from a high of 82 per 1,000 live births in The Sudan to a low of 39.7 per 1,000 live births in France. In the United States, the figure was 47.8 per 1,000 live births.

Five common causes of genetic or partially genetic origin accounted for about 26 % of all birth defects in 2001, according to the report. They are:

Up to 70% of birth defects could be avoided, the authors argued. Interventions that would have immediate impact in the poorest countries, they said, are folic acid supplementation to prevent neural tube defects, iodination of salt to prevent severe congenital hypothyroidism, and rubella immunization to prevent congenital rubella syndrome, the report said.

"In the United States alone, fortification of the grain food supply with folic acid has produced a one-third decline in neural tube defects each year, with an overall cost savings calculated at $4 billion million annually," the report noted.

Another key recommendation was to strengthen medical genetics services in poorer countries so that clinicians can identify couples at higher risk of having children with genetic disorders and can take steps to maximize the chances of these couples having healthy babies, the report said.

In addition to lack of health care resources and information, other reasons for higher rates of birth defects in poorer countries are that more older women are having babies and there are higher rates of consanguineous marriages in these countries, the report noted.

"Our report identifies for the first time the severe, and previously hidden global toll of birth defects," said Jennifer L. Howse, Ph.D., president of the March of Dimes. "This is a serious, vastly unappreciated and under-funded public health problem."

To prepare the report, the authors gathered information from national health databases when possible. The report also relied on data gathered by the World Health Organization, The United Nations, and UNICEF.

Reviewed by Robert Jasmer, MD Assistant Professor of Medicine, University of California, San Francisco

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